Publications
- Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia2021 | Second Faculty of Medicine
- Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing2020 | Second Faculty of Medicine, First Faculty of Medicine
- Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found2020 | Second Faculty of Medicine
- STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population2018 | Second Faculty of Medicine
- Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients2016 | Second Faculty of Medicine
- SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia2016 | Second Faculty of Medicine
- Hereditary spastic paraplegias: clinical and genetic aspects2016 | Second Faculty of Medicine
- Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 72024 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Genetic testing in children enrolled in epilepsy surgery program. A real-life study2023 | Second Faculty of Medicine, Central Library of Charles University
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
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